ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827124314
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000464024
RCV000573656
RCV001597142
RCV004001872
ClinVar Variation:
411016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Gly362Ser
CA043920
NM_001322009.2:c.1084G>A