ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827135864
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182803
ClinVar RCV Id:
RCV000160888
RCV000217986
RCV000694862
RCV001251394
RCV003998524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Pro376Ser
CA009210
NM_001322014.1:c.1126C>T