ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298599
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182148
ClinVar RCV Id:
RCV000159970
RCV003157424
RCV002515109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile815Thr
CA001633
NM_007294.4:c.2444T>C