ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964143
Gene: GAA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073272.1:p.Arg40Ter
NM_001079804.3:c.118C>T