ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025610
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115693
RCV000465201
RCV000586637
RCV001174801
RCV003467056
ClinVar Variation:
127789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg107Trp
CA011828
NM_001322014.1:c.319C>T