Canonical Allele Identifier: PA1139686141
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 922751
ClinVar RCV Id: RCV001182969 RCV001847185 RCV004008339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His769Gln
CA039434
NM_001195798.2:c.2307C>G
CA404095844
NM_001195798.2:c.2307C>A