ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025622
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421163
ClinVar RCV Id:
RCV000479343
RCV000550215
RCV001020378
RCV003470566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Ala116Thr
CA049263
NM_001322014.1:c.346G>A