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: PA2827101078

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231987

ClinVar RCV Id: RCV004518702

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Lys475Asn	CA366739689 NM_001322003.2:c.1425A>T CA366739692 NM_001322003.2:c.1425A>C