ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827105501
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926365
ClinVar RCV Id:
RCV001188924
RCV003594117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Val245Ala
CA366742727
NM_001322004.2:c.734T>C