ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113952
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234477
ClinVar RCV Id:
RCV000218140
RCV000536772
RCV000562665
RCV003417796
RCV003998619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ala14Ser
CA10577359
NM_001322006.2:c.40G>T