ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827617285
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365337
ClinVar RCV Id:
RCV000299852
RCV000359404
RCV001662350
RCV003372694
RCV003766099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338456.1:p.Pro2625Leu
CA5296299
NM_001351527.2:c.7874C>T