ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997357
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129437
RCV001302938
RCV002222372
ClinVar Variation:
54426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His662Tyr
CA001320
NM_007300.4:c.1984C>T