ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827131283
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418854
ClinVar RCV Id:
RCV000483031
RCV000548259
RCV000561065
RCV001821390
RCV003470536
RCV004002274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Asp278His
CA16618498
NM_001322012.1:c.832G>C