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: PA645497286

Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 343852

ClinVar RCV Id: RCV000352869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005668.2:p.Arg130Lys	CA2276202 NM_005677.4:c.389G>A