ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099024
Gene: TGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12488
ClinVar RCV Id:
RCV000013310
RCV001379756
RCV001582478
RCV003894800
RCV001813978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000350.1:p.Val383Met
CA256466
NM_000359.3:c.1147G>A