ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658831656
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
560683
ClinVar RCV Id:
RCV000678909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Leu202Pro
CA361491131
NM_005859.5:c.605T>C