ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825804219
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194611
ClinVar RCV Id:
RCV000175021
RCV000284060
RCV000339227
RCV002492742
RCV004020075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136048.1:p.Glu539Gln
CA240685
NM_001142576.2:c.1615G>C