ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825813257
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129505.1:p.Ala479Val
CA187615555
NM_001136033.3:c.1436C>T