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: PA2826464687

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 479814

ClinVar RCV Id: RCV000569653 RCV001070187

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245210.1:p.Leu529Val	CA346728295 NM_001258281.1:c.1585C>G