ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829705458
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55041
ClinVar RCV Id:
RCV000112438
RCV000152869
RCV000510086
RCV000781013
RCV001367617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Tyr130Phe
CA002508
NM_007298.3:c.389A>T