ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118608
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91305
ClinVar RCV Id:
RCV000162805
RCV000483703
RCV000524435
RCV000780617
RCV001354515
RCV003460718
RCV003997187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Glu398Gln
CA009792
NM_001322007.2:c.1192G>C