ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829710327
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083174
RCV000130787
RCV000496744
RCV001195433
RCV001284284
RCV002247441
RCV003162401
ClinVar Variation:
54394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Cys64Arg
CA001249
NM_007299.4:c.190T>C