ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827117103
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480955
ClinVar RCV Id:
RCV000563874
RCV001055075
RCV004000909
RCV003465184
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Asn12Thr
CA366744743
NM_001322007.2:c.35A>C