ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617424
Gene: SETX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Lys220Gln
CA5297988
NM_001351528.2:c.658A>C