ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829201989
Gene: TOMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1481162
ClinVar RCV Id:
RCV001988248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380429.1:p.Arg44Gln
CA6168580
NM_001393500.2:c.131G>A