ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124377
Gene: IMPDH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001136045.1:p.Arg105Trp
NM_001142573.2:c.313C>T