Canonical Allele Identifier: PA2826214851
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2190467
ClinVar Variation Id: 2615812
ClinVar RCV Id: RCV004358870

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His239Gln
CA033103
NM_001195800.2:c.717C>A
CA404084714
NM_001195800.2:c.717C>G