ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827131478
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525837
ClinVar RCV Id:
RCV000630180
RCV001013707
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Gly330Val
CA366739239
NM_001322012.1:c.989G>T