ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827617812
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000321789
RCV001222571
RCV002519195
ClinVar Variation:
285878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Ser1019Tyr
CA5297486
NM_001351528.2:c.3056C>A