ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827118488
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_001308936.1:p.Ala368Ser
CA009651
NM_001322007.2:c.1102G>T