ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997971
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159970
RCV002515109
RCV003157424
ClinVar Variation:
182148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ile815Thr
CA001633
NM_007300.4:c.2444T>C