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: PA2827127331

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 418778

ClinVar RCV Id: RCV000483592 RCV001851147

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Gln417Glu	CA16618497 NM_001322010.2:c.1249C>G