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: PA2828315171

Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2421

ClinVar RCV Id: RCV000002522

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356186.1:p.His337Arg	CA115530 NM_001369257.1:c.1010A>G