Canonical Allele Identifier: PA2826216464
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070315
ClinVar RCV Id: RCV004011833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln251His
CA404083642
NM_001195803.2:c.753G>C
CA404083643
NM_001195803.2:c.753G>T