ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827132424
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000567647
RCV001247550
ClinVar Variation:
480343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Pro32Leu
CA366744227
NM_001322013.1:c.95C>T