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: PA2827116307

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513445

ClinVar RCV Id: RCV002026177

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Glu615Asp	CA366738869 NM_001322006.2:c.1845G>T CA366738871 NM_001322006.2:c.1845G>C