ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829691211
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54563
ClinVar RCV Id:
RCV000047832
RCV000077517
RCV000212167
RCV000218307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala759Thr
CA001610
NM_007297.4:c.2275G>A