ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499272013
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043010
ClinVar RCV Id:
RCV001347054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Glu90Gln
CA361490390
NM_005859.5:c.268G>C