ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829716484
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072932
ClinVar Variation:
865501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Ala683Val
CA10590560
NM_007299.4:c.2048C>T