ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763006
Gene: PUS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.Val217Ile
CA6884211
NM_025215.6:c.649G>A