ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827118226
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964960
ClinVar RCV Id:
RCV001239293
RCV002366053
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Thr302Ile
CA366742533
NM_001322007.2:c.905C>T