ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915996260
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54180
ClinVar RCV Id:
RCV000577342
RCV001351580
RCV003157325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu421Gly
CA000833
NM_007300.4:c.1262A>G