ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827125351
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133234
ClinVar RCV:
RCV000115681
RCV000235199
RCV000457397
RCV001262165
ClinVar Variation:
127777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Glu639Gly
CA011199
NM_001322009.2:c.1916A>G