ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689502
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182133
ClinVar RCV Id:
RCV000159954
RCV000775176
RCV001251418
RCV003644910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu493Lys
CA001077
NM_007297.4:c.1477G>A