ClinGen Allele Registry
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Canonical Allele Identifier:
PA915996943
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54334
ClinVar RCV Id:
RCV000167785
RCV000166298
RCV000656786
RCV000662632
RCV002483062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu575Lys
CA001127
NM_007300.4:c.1723G>A