Canonical Allele Identifier: PA2826213881
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1512785
ClinVar RCV Id: RCV002023206

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys657Ser
CA404093894
NM_001195799.2:c.1969T>A
CA404093899
NM_001195799.2:c.1970G>C