Canonical Allele Identifier: PA916001834
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251087
ClinVar RCV Id: RCV000237930
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Asn80Lys
CA10584802
NM_001195803.2:c.240C>A
CA404075598
NM_001195803.2:c.240C>G