ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025788
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187347
ClinVar RCV Id:
RCV000167069
RCV000226423
RCV000454673
RCV001753568
RCV003995554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ser455Phe
CA009556
NM_001322014.1:c.1364C>T