ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031122
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365342
ClinVar RCV Id:
RCV000300843
RCV000337112
RCV000556745
RCV000507046
RCV001643105
RCV001848723
RCV002402088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Pro2604Leu
CA5296347
NM_001351528.2:c.7811C>T