ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825242341
Gene: PUS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002611313
ClinVar Variation:
2187061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002019.1:p.Arg116Gly
CA387298141
NM_001002019.3:c.346C>G