ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025353
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411017
ClinVar RCV Id:
RCV000987844
RCV000569996
RCV000470673
RCV004001873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ser47Asn
CA16612276
NM_001322013.1:c.140G>A