Canonical Allele Identifier: PA2825180327
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1172241
ClinVar RCV Id: RCV001525940

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asn594Lys
CA305301777
NM_000527.5:c.1782C>G
CA404089777
NM_000527.5:c.1782C>A