ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580470719
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2077857
ClinVar RCV Id:
RCV002985737
RCV003147808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.Glu227Lys
CA6884220
NM_025215.6:c.679G>A