Canonical Allele Identifier: PA645375545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251096
ClinVar RCV Id: RCV000237132

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln85His
CA10584811
NM_000527.5:c.255G>T
CA404075634
NM_000527.5:c.255G>C