ClinGen Allele Registry
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Canonical Allele Identifier:
PA916026203
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141832
ClinVar RCV Id:
RCV000130505
RCV000203735
RCV000441367
RCV001080492
RCV000662656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ile767Val
CA011165
NM_001322014.1:c.2299A>G