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: PA2827068753

Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135045

ClinVar RCV Id: RCV000121818

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307975.1:p.His131Arg	CA161507 NM_001321046.2:c.392A>G