ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616305
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000344541
RCV000390382
RCV000803584
ClinVar Variation:
365368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Asn668Ser
CA5297681
NM_001351527.2:c.2003A>G