ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096810
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
165502
ClinVar RCV:
RCV000143819
RCV000251546
RCV000302102
RCV000393538
RCV001080640
RCV001260210
RCV001847770
ClinVar Variation:
155748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Ile2547Thr
CA233108
NM_015046.7:c.7640T>C