ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891864196
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188191
ClinVar RCV Id:
RCV000168105
RCV000222089
RCV000585952
RCV003995608
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Gln145Lys
CA012095
NM_000535.7:c.433C>A