ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827106963
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233100
ClinVar RCV Id:
RCV000217885
RCV000480867
RCV000630090
RCV000765956
RCV002271472
RCV003998027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Asp391Asn
CA10578673
NM_001322004.2:c.1171G>A