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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2629509835
Gene: CYP1A2
HGNC
NCBI
Linked Data
gnomAD v4:
15-74752155-GCT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74752160_74752161del , CM000677.2:g.74752160_74752161del
GRCh38
NC_000015.9:g.75044501_75044502del , CM000677.1:g.75044501_75044502del
GRCh37
NC_000015.8:g.72831554_72831555del
NCBI36
NG_008431.1:g.34619_34620del
NG_008431.2:g.34619_34620del
NG_061543.1:g.8316_8317del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.1079_1080del
MANE Select
ENSP00000342007.4:p.Ser360Ter
ENST00000343932.4:c.1079_1080del
ENSP00000342007.4:p.Ser360Ter
NM_000761.4:c.1079_1080del
NP_000752.2:p.Ser360Ter
NM_000761.5:c.1079_1080del
MANE Select
NP_000752.2:p.Ser360Ter
Search 100 bp 5'
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