ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891866122
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127790
ClinVar RCV Id:
RCV000115694
RCV000200031
RCV000212841
RCV001089084
RCV001174967
RCV001798336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.His14Asp
CA011959
NM_001322015.1:c.40C>G