ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830030204
Gene: PUS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.Arg122Gln
CA6884101
NM_025215.6:c.365G>A