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: PA2830156564

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_536799.1:p.Arg120Lys	CA2276202 NM_080538.2:c.359G>A