ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580269698
Gene: GYS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2302248
ClinVar RCV Id:
RCV002869330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002094.2:p.Ser439Tyr
CA309387095
NM_002103.5:c.1316C>A