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: PA658831267

Gene: COLQ HGNC NCBI

Linked Data

ClinVar Variation Id: 546931

ClinVar RCV Id: RCV000658956 RCV000813230

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005668.2:p.Ala271Val	CA2275965 NM_005677.4:c.812C>T