ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692345
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1330094
ClinVar RCV Id:
RCV001801111
RCV003158958
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1016Ala
CA10595612
NM_007297.4:c.3046T>G