ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829692955
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142028
ClinVar RCV Id:
RCV000130818
RCV000196802
RCV000412247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1132Gln
CA002262
NM_007297.4:c.3394A>C