ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169467
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41832
ClinVar RCV Id:
RCV000034758
RCV000132233
RCV001076405
RCV000229512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1705Val
CA003246
NM_007294.4:c.5113C>G