ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827117540
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127794
ClinVar RCV Id:
RCV000115700
RCV000212847
RCV000472958
RCV000663188
RCV001193815
RCV003492488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Gly122Ser
CA012509
NM_001322007.2:c.364G>A