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: PA238914

Gene: COG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193397

ClinVar RCV Id: RCV000173467 RCV001086689

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061184.1:p.Arg12Trp	CA238913 NM_018714.3:c.34C>T