ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827133248
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856983
ClinVar RCV Id:
RCV001062568
RCV003160508
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ala283Thr
CA366742046
NM_001322013.1:c.847G>A