ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580469570
Gene: SPATA16
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114161.3:p.Ala486Val
CA88202251
NM_031955.6:c.1457C>T