Canonical Allele Identifier: PA2826216249
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919009
ClinVar RCV Id: RCV001176933

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Glu185Asp
CA404081083
NM_001195803.2:c.555G>C
CA404081084
NM_001195803.2:c.555G>T