ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426487
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
311316
ClinVar RCV:
RCV000300843
RCV000337112
RCV000507046
RCV000556745
RCV001643105
RCV001848723
RCV002402088
ClinVar Variation:
365342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Pro2575Leu
CA5296347
NM_015046.7:c.7724C>T