ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253394
Gene: GAN
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_071324.1:p.Gln483Ter
NM_022041.4:c.1447C>T