ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127919
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115681
RCV000235199
RCV000457397
RCV001262165
ClinVar Variation:
127777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Glu576Gly
CA011199
NM_001322010.2:c.1727A>G