ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828070423
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349826.1:p.Tyr249Ser
CA372490644
NM_001362897.2:c.746A>C