ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691543
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000569858
RCV001865705
ClinVar Variation:
479220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala831Val
CA10596726
NM_007297.4:c.2492C>T