ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827132047
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140758
ClinVar RCV Id:
RCV000128875
RCV001567177
RCV000560365
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Asp481Asn
CA011368
NM_001322012.1:c.1441G>A