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: PA2827125866

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 182810

ClinVar RCV Id: RCV000160897 RCV000531977 RCV000776509

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Arg34Cys	CA012217 NM_001322010.2:c.100C>T