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: PA916024738

Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135041

ClinVar RCV Id: RCV000121814

ClinVar Variation Id: 708165

ClinVar RCV Id: RCV000879375 RCV003955790

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307980.1:p.Glu59Lys	CA161497 NM_001321051.2:c.174_175delinsTA CA2026317 NM_001321051.2:c.175G>A