ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827116197
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2061303
ClinVar RCV Id:
RCV002942621
RCV003170646
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.His582Asn
CA045786
NM_001322006.2:c.1744C>A