ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167952
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54742
ClinVar RCV Id:
RCV000048034
RCV000111977
RCV000131313
RCV003607223
RCV003226180
RCV003159094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1000Lys
CA001951
NM_007294.4:c.2998G>A