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: PA1139683851

Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 967721

ClinVar RCV Id: RCV001242702 RCV001806080

ClinVar Variation Id: 2567648

ClinVar RCV Id: RCV003278609

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121897.1:p.Thr483Ser	CA340132548 NM_001128425.2:c.1448C>G CA340132551 NM_001128425.2:c.1447A>T