ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827112005
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
632949
ClinVar RCV Id:
RCV000780623
RCV001009927
RCV001039265
RCV003413572
RCV003992388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Gln240del
CA913189369
NM_001322005.2:c.719_721del