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: PA2827068546

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_001307973.1:p.Tyr592Asp	CA161522 NM_001321044.2:c.1774T>G