Canonical Allele Identifier: PA2826215688
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075017
ClinVar RCV Id: RCV004015543
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser542Asn
CA404093974
NM_001195800.2:c.1625G>A