Canonical Allele Identifier: PA2829134769
Gene: DPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183359
ClinVar RCV Id: RCV000162191 RCV000210874 RCV003147374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374.4:p.Leu229Pro
CA249975
NM_001383.6:c.686T>C