ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826250092
Gene: PGM3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627456
ClinVar RCV Id:
RCV003388719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186847.1:p.Tyr248His
CA364880986
NM_001199918.2:c.742T>C