ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138039
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135937
ClinVar RCV Id:
RCV000123078
RCV000131575
RCV000479914
RCV001824617
RCV001775084
RCV003149840
RCV003997415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ala371Ser
CA009651
NM_001322015.1:c.1111G>T