ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825243272
Gene: PUS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
806965
ClinVar RCV Id:
RCV000995006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002020.1:p.Asp188Gly
CA6884209
NM_001002020.3:c.563A>G