ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138441
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000216954
RCV000473171
RCV003998011
ClinVar Variation:
232923
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Thr470Asn
CA10578664
NM_001322015.1:c.1409C>A