ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829692351
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54795
ClinVar RCV Id:
RCV000112015
RCV000166720
RCV001324849
RCV003318549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1017Cys
CA002077
NM_007297.4:c.3049A>T