ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662250
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468508
ClinVar RCV Id:
RCV000525003
RCV003243185
RCV003482284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ala1479Val
CA5297200
NM_015046.7:c.4436C>T