ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827114039
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000216417
RCV000232372
RCV001184309
RCV003998634
ClinVar Variation:
234593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ser36Asn
CA10577355
NM_001322006.2:c.107G>A