ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573080287
Gene: TOMT
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001380429.1:p.Trp72Arg
NM_001393500.2:c.214T>A
NM_001393500.2:c.214T>C