ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658711202
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_510965.1:p.Arg130His
CA372493739
NM_078480.3:c.389G>A