ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139698501
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919105
ClinVar RCV Id:
RCV001177036
RCV002559714
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Val23Leu
CA050868
NM_001322014.1:c.67G>C