ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827114341
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1730601
ClinVar RCV Id:
RCV002321069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ser112Ile
CA366744559
NM_001322006.2:c.335G>T