ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827133670
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000662641
RCV000695037
RCV001181986
RCV001358575
RCV001539070
RCV003320560
ClinVar Variation:
91311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg387Cys
CA010199
NM_001322013.1:c.1159C>T