Canonical Allele Identifier: PA2826217242
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252135
ClinVar RCV Id: RCV000237182
ClinVar Variation Id: 2152309
ClinVar RCV Id: RCV003079228
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Phe528Leu
CA10585700
NM_001195803.2:c.1584C>G
CA404093221
NM_001195803.2:c.1582T>C
CA404093238
NM_001195803.2:c.1584C>A