Canonical Allele Identifier: PA2826217112
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1780766
ClinVar RCV Id: RCV002410359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.His480Gln
CA404089844
NM_001195803.2:c.1440C>A
CA404089845
NM_001195803.2:c.1440C>G