Canonical Allele Identifier: PA2826216318
Gene: LDLR HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly208Cys
CA404082719
NM_001195803.2:c.622G>T
CA3054201316
NM_001195803.2:c.621_622delinsAT