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: PA2826197753

Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 423833

ClinVar RCV Id: RCV000485449 RCV004023204

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182068.2:p.Ala574Thr	CA8144197 NM_001195139.2:c.1720G>A