ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119176
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2853103
ClinVar RCV Id:
RCV003758663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ala544Ser
CA366739110
NM_001322007.2:c.1630G>T