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: PA2827114038

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773855

ClinVar RCV Id: RCV002389772

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308935.1:p.Leu35_Ser36insIle	CA1685264078 NM_001322006.2:c.104_106dup