ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825068279
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1944953
ClinVar RCV Id:
RCV002640033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Ala30Val
CA402998216
NM_000156.6:c.89C>T