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: PA2827105782

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91298

ClinVar RCV Id: RCV000009820

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Lys278del	CA009383 NM_001322004.2:c.832_834del CA366742507 NM_001322004.2:c.832A>T CA366742513 NM_001322004.2:c.829A>T