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: PA2825189072

Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 998772

ClinVar RCV Id: RCV001294672 RCV002357077

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Val39Leu	CA366745036 NM_000535.7:c.115G>T CA366745037 NM_000535.7:c.115G>C