ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025843
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91303
ClinVar RCV Id:
RCV000076811
RCV000221900
RCV000483082
RCV000657046
RCV000684795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ala488Val
CA009709
NM_001322014.1:c.1463C>T