ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025926
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000121840
RCV000515611
RCV000860105
RCV001789176
RCV003997355
ClinVar Variation:
135065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Lys541Glu
CA044701
NM_001322014.1:c.1621A>G