ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998587
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54679
ClinVar RCV Id:
RCV000111937
RCV001016594
RCV001344844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly928Ser
CA001829
NM_007300.4:c.2782G>A