ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998633
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251322
ClinVar RCV Id:
RCV000237647
RCV002356332
RCV003581605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys204Phe
CA10585012
NM_001195798.2:c.611G>T