Canonical Allele Identifier: PA2827378819
Gene: DPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521028
ClinVar RCV Id: RCV000622588 RCV000677664 RCV001574312 RCV003928037 RCV004525988
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333504.1:p.Leu125Pro
CA8276945
NM_001346575.1:c.374T>C