ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658706234
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496357
ClinVar RCV Id:
RCV000589023
RCV001853989
RCV003157729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His816Leu
CA10597115
NM_007294.4:c.2447A>T