ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100738
Gene: GNAT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000163.2:p.Gly38Asp
NM_000172.3:c.113G>A