Canonical Allele Identifier: PA2829134771
Gene: DPH1 HGNC NCBI
ClinVar RCV:
RCV004527542
ClinVar Variation:
3233395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001374.4:p.Phe234Ser
CA397604337
NM_001383.6:c.701T>C