ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267979
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54680
ClinVar RCV Id:
RCV000111938
RCV000478240
RCV001320702
RCV002433540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro930Leu
CA001831
NM_007294.4:c.2789C>T