ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118579
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411016
ClinVar RCV Id:
RCV000464024
RCV000573656
RCV001597142
RCV004001872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Gly391Ser
CA043920
NM_001322007.2:c.1171G>A