Canonical Allele Identifier: PA2829134728
Gene: DPH1 HGNC NCBI
ClinVar RCV:
RCV001335832
ClinVar Variation:
1033423
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374.4:p.Arg27His
CA397602189
NM_001383.6:c.80G>A