ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825913393
Gene: GYS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001923023
ClinVar Variation:
1411994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155059.1:p.Ala183Val
CA406764684
NM_001161587.2:c.548C>T