ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025487
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486939
ClinVar RCV Id:
RCV003459409
RCV000575185
RCV000700522
RCV001284678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asp19His
CA366745145
NM_001322014.1:c.55G>C