ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827132648
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185926
ClinVar RCV Id:
RCV000165431
RCV000465860
RCV001797651
RCV003126561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Met121Val
CA013304
NM_001322013.1:c.361A>G