ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510747
Gene: AHDC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001025053.1:p.Arg688Ter
NM_001029882.3:c.2062C>T