ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992923
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000537501
RCV002330858
ClinVar Variation:
462639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Glu312Lys
CA10593237
NM_007299.4:c.934G>A