ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827113172
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127771
ClinVar RCV Id:
RCV000115671
RCV000212866
RCV000547118
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Ile544Val
CA010735
NM_001322005.2:c.1630A>G