Canonical Allele Identifier: PA2573186092
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321219
ClinVar RCV Id: RCV002405316 RCV002227546 RCV002541095
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val578Phe
CA404089691
NM_001195798.2:c.1732G>T