Canonical Allele Identifier: PA2826217285
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431543
ClinVar RCV Id: RCV000497022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Arg550Ser
CA404094897
NM_001195803.2:c.1650G>C
CA404094898
NM_001195803.2:c.1650G>T