ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139711837
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
867385
ClinVar RCV Id:
RCV001076062
RCV001367487
RCV003339465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Val706Met
CA10590583
NM_007298.3:c.2116G>A