ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827130902
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142635
ClinVar RCV Id:
RCV000131960
RCV000168413
RCV000223568
RCV000662631
RCV001193253
RCV003998124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Ser183Leu
CA009752
NM_001322012.1:c.548C>T