ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167173
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000130818
RCV000196802
RCV000412247
ClinVar Variation:
142028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1179Gln
CA002262
NM_007294.4:c.3535A>C