ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827126144
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182801
ClinVar RCV Id:
RCV000160885
RCV000206870
RCV000567432
RCV000587187
RCV003462102
RCV003927529
RCV003998523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Val116Met
CA012744
NM_001322010.2:c.346G>A