ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915999566
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54880
ClinVar RCV Id:
RCV000112095
RCV001020275
RCV001365238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1143Phe
CA002218
NM_007300.4:c.3428C>T