ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236147
Gene: DPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374.4:p.Arg429Thr
CA8277372
NM_001383.6:c.1286G>C