Canonical Allele Identifier: PA1139697965
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919009
ClinVar RCV Id: RCV001176933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Glu312Asp
CA404081083
NM_001195798.2:c.936G>C
CA404081084
NM_001195798.2:c.936G>T