ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025447
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450786
ClinVar RCV Id:
RCV000519055
RCV000535555
RCV000569016
RCV003449491
ClinVar Variation Id:
957082
ClinVar RCV Id:
RCV001229997
RCV001284677
ClinVar Variation Id:
1429521
ClinVar RCV Id:
RCV001950104
RCV003452184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Met1Ile