ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390135
Gene: PYGM
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005600.1:p.Gln73Ter
NM_005609.4:c.217C>T