ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992700
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186496
ClinVar RCV Id:
RCV000166098
RCV000204222
RCV000239189
RCV000662947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ile754Thr
CA003728
NM_007298.3:c.2261T>C