ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825803983
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3027889
ClinVar RCV Id:
RCV003891143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136048.1:p.Gln317Lys
CA369168019
NM_001142576.2:c.949C>A