ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079272583
Gene: STAB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060034.9:p.Pro2039Thr
CA6752080
NM_017564.9:c.6115C>A