ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139690542
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
910851
ClinVar RCV Id:
RCV001162958
RCV001162959
RCV002558560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291450.1:p.Arg73Trp
CA4471164
NM_001304521.2:c.217C>T