ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480111
Gene: GYG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383918
ClinVar RCV Id:
RCV000426412
RCV000910723
RCV003430991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004121.2:p.Ser46Cys
CA2658466
NM_004130.4:c.137C>G