ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827139232
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185820
ClinVar RCV Id:
RCV000165312
RCV000230774
RCV000222502
RCV000662655
RCV000767022
RCV001354621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Val680Ile
CA011316
NM_001322015.1:c.2038G>A