Canonical Allele Identifier: PA916071261
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 8305
ClinVar RCV Id: RCV000008803 RCV001851745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_620279.1:p.Met50Leu
CA254380
NM_138924.3:c.148A>C
CA402998063
NM_138924.3:c.148A>T