ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826532604
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258027.1:p.Glu180Lys
CA372492650
NM_001271098.2:c.538G>A