ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993343
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55244
ClinVar RCV Id:
RCV000112368
RCV000132132
RCV000479934
RCV000780989
RCV001434885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Pro440Leu
CA002935
NM_007299.4:c.1319C>T