ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573080290
Gene: TOMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44039
ClinVar RCV Id:
RCV000037014
RCV000357006
RCV000973477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380429.1:p.Val85Ile
CA133444
NM_001393500.2:c.253G>A