ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119345
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
484283
ClinVar RCV Id:
RCV000570769
RCV000797970
RCV000662598
RCV001591337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ile591Val
CA366738020
NM_001322007.2:c.1771A>G