Canonical Allele Identifier: PA2826215445
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252083
ClinVar RCV Id: RCV000237217 RCV001182067 RCV003238749 RCV004020970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Phe451Leu
CA037227
NM_001195800.2:c.1351T>C
CA404092379
NM_001195800.2:c.1353T>A
CA404092381
NM_001195800.2:c.1353T>G