ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998640
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462594
ClinVar RCV Id:
RCV000549570
RCV001284539
RCV002438340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val939Ile
CA10596363
NM_007300.4:c.2815G>A