Canonical Allele Identifier: PA314853
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 205604
ClinVar RCV Id: RCV000187589
ClinVar Variation Id: 504318
ClinVar RCV Id: RCV000598687

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000147.1:p.Ala57dup
CA314852
NM_000156.6:c.169_171dup
CA9043795
NM_000156.6:c.159_161dup