ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826249881
Gene: PGM3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2041255
ClinVar RCV Id:
RCV002891029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186846.1:p.Val352Ile
CA364881015
NM_001199917.2:c.1054G>A