ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413590
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
307701
ClinVar RCV Id:
RCV000281975
RCV001277397
RCV001354830
RCV002520798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079491.2:p.Arg215Trp
CA6884207
NM_025215.6:c.643C>T