Canonical Allele Identifier: PA2826213549
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252009
ClinVar RCV Id: RCV000237863

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp538Glu
CA10585592
NM_001195799.2:c.1614C>G
CA404089696
NM_001195799.2:c.1614C>A