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: PA916024733

Gene: PMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135050

ClinVar RCV Id: RCV000121823

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307977.1:p.Tyr793Asp	CA161522 NM_001321048.2:c.2377T>G