ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026235
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142421
ClinVar RCV Id:
RCV000131526
RCV000218670
RCV000656951
RCV000662644
RCV001082079
RCV001798453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu797Met
CA011333
NM_001322014.1:c.2389C>A