ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996308
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182131
ClinVar RCV Id:
RCV000159952
RCV001850254
RCV003157417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu438Ala
CA000858
NM_007300.4:c.1313A>C