ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573203428
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1450979
ClinVar RCV Id:
RCV001993037
RCV002386813
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Pro446Ser
CA366742305
NM_001322014.1:c.1336C>T