ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025780
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221391
RCV000521141
RCV000629994
RCV001731444
RCV003997861
ClinVar Variation:
230823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gly452Ser
CA043115
NM_001322014.1:c.1354G>A