ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827113951
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419149
ClinVar RCV Id:
RCV000483071
RCV001035359
RCV002329144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala14Val
CA16618546
NM_001322006.2:c.41C>T