ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091290
Gene: AGA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000018.2:p.Gly252Arg
NM_000027.3:c.754G>A
NM_000027.3:c.754G>C