ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573239504
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685051
ClinVar RCV Id:
RCV002248143
RCV003101332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Gly92Ala
CA361490407
NM_005859.5:c.275G>C