ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810502
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536384
ClinVar RCV Id:
RCV000644823
RCV004533373
RCV004025671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ser802Gly
CA375336078
NM_015046.7:c.2404A>G