ClinGen Allele Registry
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Canonical Allele Identifier:
PA915992036
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048034
RCV000111977
RCV000131313
RCV003159094
RCV003226180
RCV003607223
ClinVar Variation:
54742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu953Lys
CA001951
NM_007297.4:c.2857G>A