ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215345
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000238270
ClinVar Variation:
252018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ile417Thr
CA10585601
NM_001195800.2:c.1250T>C