ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827126414
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50161
ClinVar RCV:
RCV000034638
RCV000115712
RCV000212860
RCV000987839
RCV001083014
RCV001354089
RCV003952396
ClinVar Variation:
41722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Tyr183Cys
CA013361
NM_001322010.2:c.548A>G