ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825243365
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2056848
ClinVar RCV Id:
RCV002914710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002020.1:p.Gly225Trp
CA387299115
NM_001002020.3:c.673G>T