Canonical Allele Identifier: PA199219
Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 189319
ClinVar RCV Id: RCV000169739 RCV000172939 RCV001266572 RCV003335173 RCV003937527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005850.1:p.Phe233del
CA199218
NM_005859.5:c.697_699del