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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:
CA272820023
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1054146453
MyVariant Identifiers:
chr15:g.75041316del (hg19)
chr15:g.74748975del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74748978del , CM000677.2:g.74748978del
GRCh38
NC_000015.9:g.75041319del , CM000677.1:g.75041319del
GRCh37
NC_000015.8:g.72828372del
NCBI36
NG_008431.1:g.31437del
NG_008431.2:g.31437del
NG_061543.1:g.5134del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000343932.5:c.-10+81del
MANE Select
ENSP00000342007.4:n.-10+81del
ENST00000343932.4:c.-10+81del
ENSP00000342007.4:n.-10+81del
NM_000761.4:c.-10+81del
NP_000752.2:n.-10+81del
NM_000761.5:c.-10+81del
MANE Select
NP_000752.2:n.-10+81del
Search 100 bp 5'
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