ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827616412
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365364
ClinVar RCV Id:
RCV000280363
RCV000372562
RCV000644850
RCV000789558
RCV001079301
RCV001848726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Val891Ala
CA5297553
NM_001351527.2:c.2672T>C