ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426308
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
365360
ClinVar RCV Id:
RCV000304137
RCV000393561
RCV001810866
RCV002323570
RCV002523743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Thr1067Ile
CA5297452
NM_015046.7:c.3200C>T