ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827122722
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999060
ClinVar RCV Id:
RCV001295008
RCV002379986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Pro336Ser
CA366742332
NM_001322008.2:c.1006C>T