Canonical Allele Identifier: PA2827378788
Gene: DPH1 HGNC NCBI
ClinVar RCV:
RCV004527542
ClinVar Variation:
3233395
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333503.1:p.Phe239Ser
CA397604337
NM_001346574.1:c.716T>C