ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827113493
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127777
ClinVar RCV Id:
RCV000115681
RCV000457397
RCV000235199
RCV001262165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Glu628Gly
CA011199
NM_001322005.2:c.1883A>G