ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827125945
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41715
ClinVar RCV Id:
RCV000034631
RCV000132453
RCV000221255
RCV000662753
RCV001080249
RCV001798067
RCV003996173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Tyr56Cys
CA012331
NM_001322010.2:c.167A>G