ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826214554
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000237523
RCV000791350
RCV002374402
ClinVar Variation:
251540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Cys145Trp
CA030215
NM_001195800.2:c.435C>G