ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826213840
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1785078
ClinVar RCV Id:
RCV002421827
RCV004007394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ala643Val
CA404093668
NM_001195799.2:c.1928C>T