ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233104
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000143817
RCV000790205
RCV000988269
RCV001049421
RCV002326849
ClinVar Variation:
155746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Lys1425Glu
CA233102
NM_015046.7:c.4273A>G