ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668106
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000575866
RCV001072277
RCV003645036
ClinVar Variation:
481475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1842Glu
CA10590268
NM_007294.4:c.5525T>A