ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510318
Gene: SETX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000507293
RCV000552319
RCV001089104
RCV002438234
RCV004541589
ClinVar Variation:
440267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055861.3:p.Asn1004Asp
CA5297500
NM_015046.7:c.3010A>G