Canonical Allele Identifier: PA916071243
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 167131
ClinVar RCV Id: RCV000153308 RCV000224880 RCV001009545 RCV001127426 RCV001081204 RCV002312992 RCV001251994 RCV003907448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_620279.1:p.Tyr27His
CA295620
NM_138924.3:c.79T>C