ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827135317
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234618
ClinVar RCV Id:
RCV000216712
RCV000822338
RCV001025143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg211Leu
CA10577349
NM_001322014.1:c.632G>T