ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139708178
Gene: DPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374.4:p.Arg398His
CA397605420
NM_001383.6:c.1193G>A