ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099014
Gene: TGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12486
ClinVar RCV Id:
RCV000013307
RCV000413167
RCV003317033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000350.1:p.Val379Leu
CA256464
NM_000359.3:c.1135G>C