ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197207
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
618619
ClinVar RCV:
RCV000772596
ClinVar Variation:
628251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn1043Thr
CA10595730
NM_007294.4:c.3128A>C