ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864156
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233032
ClinVar RCV Id:
RCV000214977
RCV000537717
RCV001552609
RCV001800570
RCV003469064
RCV003998023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Leu114Phe
CA049251
NM_000535.7:c.340C>T