ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139706311
Gene: GYS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
936512
ClinVar RCV Id:
RCV001205324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002094.2:p.Pro442Thr
CA9562980
NM_002103.5:c.1324C>A