ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827100226
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135939
ClinVar RCV Id:
RCV000410304
RCV000515260
RCV000132386
RCV000483157
RCV000780619
RCV001085962
RCV001798404
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Tyr384Cys
CA009843
NM_001322003.2:c.1151A>G