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: PA2827105458

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2566073

ClinVar RCV Id: RCV003306367 RCV003759807

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Pro241Ala	CA366742752 NM_001322004.2:c.721C>G