ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499249930
Gene: DPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333504.1:p.Tyr112Cys
CA8276938
NM_001346575.1:c.335A>G