ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827132338
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168105
RCV000222089
RCV000585952
RCV003995608
ClinVar Variation:
188191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Gln10Lys
CA012095
NM_001322013.1:c.28C>A