ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127196
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135066
ClinVar RCV Id:
RCV000121841
RCV000129033
RCV000195850
RCV001164192
RCV001719888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Asn383Asp
CA010119
NM_001322010.2:c.1147A>G