ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825208495
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1171585
ClinVar RCV Id:
RCV001524799
RCV004008794
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Arg132Gln
CA043409
NM_000527.5:c.395G>A