ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827117091
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439243
ClinVar RCV Id:
RCV000505890
RCV000662778
RCV001182957
RCV000550672
RCV003114636
RCV003159643
RCV002305497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Arg9Leu
CA366744765
NM_001322007.2:c.26G>T