Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645377469

Gene: PURA HGNC NCBI

Linked Data

ClinVar Variation Id: 426839

ClinVar RCV Id: RCV000490074 RCV002248714

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005850.1:p.Asn162Lys	CA361490881 NM_005859.5:c.486C>A CA361490882 NM_005859.5:c.486C>G