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: PA331708

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91245

ClinVar RCV Id: RCV000076750 RCV000491370 RCV001052685

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Leu310Pro	CA022549 NM_000251.3:c.929T>C