ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864172
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135069
ClinVar RCV Id:
RCV000121857
RCV000129112
RCV000168196
RCV000590269
RCV001084398
RCV001093698
RCV001095167
RCV003945100
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ala127Thr
CA012018
NM_000535.7:c.379G>A