Canonical Allele Identifier: PA2826214894
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926524
ClinVar RCV Id: RCV001189130 RCV003396798 RCV004010342
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser253Arg
CA033349
NM_001195800.2:c.759C>A
CA404084812
NM_001195800.2:c.757A>C
CA404084822
NM_001195800.2:c.759C>G