ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825803147
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
358878
ClinVar RCV Id:
RCV000287544
RCV000347099
RCV000521919
RCV003168555
RCV004544684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136047.1:p.Thr147Ala
CA4471065
NM_001142575.2:c.439A>G