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: PA189557

Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184645

ClinVar RCV Id: RCV000163932 RCV000554840 RCV001267891

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000242.1:p.Leu595Arg	CA019291 NM_000251.3:c.1784T>G