ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827098348
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000232471
RCV000565783
RCV000853300
RCV001174830
RCV001284035
ClinVar Variation:
237933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Val171Glu
CA10582517
NM_001322003.2:c.512T>A