Canonical Allele Identifier: PA2826214837
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251732
ClinVar RCV Id: RCV000238099 RCV002347940
ClinVar Variation Id: 565474
ClinVar RCV Id: RCV000685044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Phe235Leu
CA10585355
NM_001195800.2:c.703T>C
CA404084694
NM_001195800.2:c.705C>G
CA404084695
NM_001195800.2:c.705C>A