ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828070231
Gene: PUF60
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349824.1:p.Arg167His
CA372493739
NM_001362895.2:c.500G>A