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: PA2827108323

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513445

ClinVar RCV Id: RCV002026177

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Glu532Asp	CA366738869 NM_001322004.2:c.1596G>T CA366738871 NM_001322004.2:c.1596G>C