ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000463
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
246259
ClinVar RCV:
RCV000237367
ClinVar Variation:
251955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly549Val
CA10585545
NM_001195798.2:c.1646G>T