ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278611
Gene: NAGPA
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_057340.2:p.Arg328Cys
NM_016256.4:c.982C>T