ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827122821
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411076
ClinVar RCV Id:
RCV000472222
RCV000574931
RCV004001882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Leu348Pro
CA043156
NM_001322008.2:c.1043T>C