ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826213399
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000238555
RCV003298317
RCV003581628
ClinVar Variation:
251902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asp484Val
CA10585507
NM_001195799.2:c.1451A>T