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: PA2827121149

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234572

ClinVar RCV Id: RCV000219855 RCV000467401 RCV004020705

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Lys73del	CA10577354 NM_001322008.2:c.217_219del CA366744151 NM_001322008.2:c.217A>T CA366744159 NM_001322008.2:c.214A>T