ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268332
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55412
ClinVar RCV Id:
RCV000048808
RCV000112502
RCV000733369
RCV001023598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1713Ala
CA003262
NM_007294.4:c.5138T>C