ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124381
Gene: IMPDH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14837
ClinVar RCV Id:
RCV000015962
RCV000951177
RCV003887873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000874.2:p.Arg190Trp
CA124376
NM_000883.4:c.568C>T