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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:
CA653585455
Gene: CYP2C19
HGNC
NCBI
Linked Data
COSMIC:
COSN21270617
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94762632_94762633insG , CM000672.2:g.94762632_94762633insG
GRCh38
NC_000010.10:g.96522389_96522390insG , CM000672.1:g.96522389_96522390insG
GRCh37
NC_000010.9:g.96512379_96512380insG
NCBI36
NG_008384.2:g.4927_4928insG
NG_008384.3:g.4952_4953insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000371321.7:c.-74_-73insG
ENSP00000360372.3:n.-74_-73insG
ENST00000464755.1:c.932-12426_932-12425insG
ENSP00000483243.1:n.932-12426_932-12425in...
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