ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827107512
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216455
ClinVar RCV Id:
RCV000199546
RCV000218135
RCV001544673
RCV003462329
RCV003491945
RCV003320596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Arg443His
CA045451
NM_001322004.2:c.1328G>A