Canonical Allele Identifier: PA2826215127
Gene: LDLR HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val338Leu
CA404086496
NM_001195800.2:c.1012G>C
CA404086497
NM_001195800.2:c.1012G>T