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: PA2827134809

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2883889

ClinVar RCV Id: RCV003759612

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Thr37Ser	CA366745045 NM_001322014.1:c.110C>G CA366745047 NM_001322014.1:c.109A>T