ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025474
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525590
ClinVar RCV Id:
RCV000629670
RCV001179135
RCV003324775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ala12Thr
CA366745184
NM_001322014.1:c.34G>A