ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247154
Gene: PGM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002624.2:p.Ala368Val
CA247153
NM_002633.3:c.1103C>T