ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134166
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1055941
ClinVar RCV Id:
RCV001364694
RCV003346519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Leu521Pro
CA366737914
NM_001322013.1:c.1562T>C