ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827137289
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484262
ClinVar RCV Id:
RCV000573847
RCV000587439
RCV001553488
RCV001049150
RCV004001071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Thr174Met
CA051942
NM_001322015.1:c.521C>T