Canonical Allele Identifier: PA2826211302
Gene: LDLR HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys46Ser
CA023468
NM_001195798.2:c.137G>C
CA404074834
NM_001195798.2:c.136T>A