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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:
CA715670326
Gene: CYP1A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1419555986
MyVariant Identifiers:
chr15:g.75046957del (hg19)
chr15:g.74754616del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.74754618del , CM000677.2:g.74754618del
GRCh38
NC_000015.9:g.75046959del , CM000677.1:g.75046959del
GRCh37
NC_000015.8:g.72834012del
NCBI36
NG_008431.1:g.37077del
NG_008431.2:g.37077del
NG_061543.1:g.10774del
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1254-173del
MANE Select
ENSP00000342007.4:n.1254-173del
ENST00000343932.4:c.1254-173del
ENSP00000342007.4:n.1254-173del
NM_000761.4:c.1254-173del
NP_000752.2:n.1254-173del
NM_000761.5:c.1254-173del
MANE Select
NP_000752.2:n.1254-173del
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