ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825242530
Gene: PUS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002019.1:p.Arg246Gln
CA322892
NM_001002019.3:c.737G>A