ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827133069
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127758
ClinVar RCV Id:
RCV000115655
RCV000228417
RCV000565134
RCV003467051
RCV003415890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Arg236Cys
CA009466
NM_001322013.1:c.706C>T