ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913202258
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_510965.1:p.Val483Ala
CA372485735
NM_078480.3:c.1448T>C