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: PA645475721

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233257

ClinVar RCV Id: RCV000221170 RCV001284506 RCV002229309

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Ala789Val	CA10578003 NM_000251.3:c.2366C>T