ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118782
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000562900
RCV000796414
RCV002509443
RCV003459301
RCV004000893
ClinVar Variation:
480321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ser439Cys
CA153227998
NM_001322007.2:c.1316C>G