ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025993
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91313
ClinVar RCV Id:
RCV000216706
RCV000524448
RCV001529737
RCV003997188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Leu585Ile
CA010216
NM_001322014.1:c.1753C>A