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: PA2826823785

Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 565360

ClinVar RCV Id: RCV000684904 RCV001026908

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280119.1:p.Trp250Arg	CA340134748 NM_001293190.2:c.748T>C CA340134749 NM_001293190.2:c.748T>A