Canonical Allele Identifier: PA2829134755
Gene: DPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445317
ClinVar RCV Id: RCV000513862
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374.4:p.Thr157Ile
CA8277007
NM_001383.6:c.470C>T