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: PA645422092

Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 379772

ClinVar RCV Id: RCV000434602 RCV000552167

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008835.5:p.Ala6Ser	CA4742121 NM_006904.7:c.16G>T