ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA093588
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544251
ClinVar RCV Id:
RCV000655356
RCV001835900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Ala75Val
CA402996954
NM_000156.6:c.224C>T