ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826002016
Gene: PYGM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158188.1:p.Ser362Leu
CA6079907
NM_001164716.1:c.1085C>T