ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114637
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034631
RCV000132453
RCV000221255
RCV000662753
RCV001080249
RCV001798067
RCV003996173
ClinVar Variation:
41715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Tyr191Cys
CA012331
NM_001322006.2:c.572A>G