ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138226
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139651
ClinVar RCV:
RCV000132386
RCV000410304
RCV000483157
RCV000515260
RCV000780619
RCV001085962
RCV001798404
ClinVar Variation:
135939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Tyr416Cys
CA009843
NM_001322015.1:c.1247A>G