ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826212449
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251347
ClinVar RCV Id:
RCV000237519
RCV003477850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys175Phe
CA10585036
NM_001195799.2:c.524G>T