Canonical Allele Identifier: PA2826213382
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251896
ClinVar RCV Id: RCV000237344 RCV003581627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Pro478Ser
CA10585501
NM_001195799.2:c.1432C>T