ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827113287
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484260
ClinVar RCV Id:
RCV000563319
RCV001853736
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Tyr572Cys
CA366737952
NM_001322005.2:c.1715A>G