ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580471590
Gene: SPX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085049.1:p.Arg72Gln
CA6479564
NM_030572.4:c.215G>A