ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573224045
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_002094.2:p.Ala247Val
CA406764684
NM_002103.5:c.740C>T