ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101249
Gene: GSS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000169.1:p.Arg267Trp
NM_000178.2:c.799C>T