ClinGen Allele Registry
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Canonical Allele Identifier:
PA916000438
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96921
ClinVar RCV Id:
RCV000083042
RCV000131512
RCV000424747
RCV000469729
RCV001284394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro1315Arg
CA002530
NM_007300.4:c.3944C>G