ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992308
Gene: AGA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001165459.1:p.Cys163Ser
NM_001171988.2:c.487T>A
NM_001171988.2:c.488G>C