ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240848
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194714
ClinVar RCV Id:
RCV000175148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000874.2:p.Arg597Trp
CA240847
NM_000883.4:c.1789C>T