ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113901
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232589
ClinVar RCV Id:
RCV000214339
RCV000222258
RCV000230374
RCV000662535
RCV000657052
RCV001354151
RCV003997985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala4Gly
CA042517
NM_001322006.2:c.11C>G