ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826001948
Gene: PYGM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Pro310Leu
CA6079975
NM_001164716.1:c.929C>T