Canonical Allele Identifier: PA915998364
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251227
ClinVar RCV Id: RCV000238446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys148Ser
CA10584922
NM_001195798.2:c.443G>C
CA404076472
NM_001195798.2:c.442T>A