ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827133766
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1692459
ClinVar RCV Id:
RCV002258549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ser412Ala
CA366739753
NM_001322013.1:c.1234T>G