ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829756756
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055096.2:p.Val466Ala
CA372485735
NM_014281.5:c.1397T>C