ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124379
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_001136048.1:p.Arg157Trp
CA124376
NM_001142576.2:c.469C>T