ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115495
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167069
RCV000226423
RCV000454673
RCV001753568
RCV003995554
ClinVar Variation:
187347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ser403Phe
CA009556
NM_001322006.2:c.1208C>T