ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485521
Gene: DHDDS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_995583.1:p.Ser303Leu
CA705486
NM_205861.3:c.908C>T