ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645393985
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002624.2:p.Tyr420His
NM_002633.3:c.1258T>C