ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573087501
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1335851
ClinVar RCV Id:
RCV001822054
RCV002542489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Phe231Cys
CA361491325
NM_005859.5:c.692T>G