ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257378
Gene: IMPDH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136047.1:p.Val243Ile
CA257377
NM_001142575.2:c.727G>A