ClinGen Allele Registry
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Canonical Allele Identifier:
PA915994972
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54471
ClinVar RCV Id:
RCV000112023
RCV000503702
RCV001180531
RCV001384425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg71Lys
CA001420
NM_007300.4:c.212G>A