ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645511253
Gene: PYGM
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005600.1:p.Tyr84Ter
NM_005609.4:c.252C>A
NM_005609.4:c.252C>G