ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031107
Gene: SETX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
493499
ClinVar RCV Id:
RCV000585562
RCV001860112
RCV003233754
RCV003233755
RCV004530633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338457.1:p.Leu2502Val
CA5296396
NM_001351528.2:c.7504C>G