ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580269714
Gene: GYS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2011112
ClinVar RCV Id:
RCV002829259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002094.2:p.Pro455Thr
CA406761670
NM_002103.5:c.1363C>A