ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580286115
Gene: GYG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2079553
ClinVar RCV Id:
RCV002995462
RCV002982887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004121.2:p.Leu84Pro
CA2658499
NM_004130.4:c.251T>C