ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741924702
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2693957
ClinVar RCV Id:
RCV003586460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Arg65Leu
CA361489985
NM_005859.5:c.194G>T