ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256473
Gene: TGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000350.1:p.Val518Met
CA256472
NM_000359.3:c.1552G>A