ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008500
Gene: PURA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Leu132Val
CA3437460
NM_005859.5:c.394C>G