ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134560
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91343
ClinVar RCV Id:
RCV000076859
RCV000130249
RCV000485694
RCV000525929
RCV000764719
RCV001193971
RCV003452993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ser624Leu
CA011500
NM_001322013.1:c.1871C>T