ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825803946
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513705
ClinVar RCV Id:
RCV002026303
RCV003303647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136048.1:p.Tyr285His
CA369169194
NM_001142576.2:c.853T>C