ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827117140
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237915
ClinVar RCV Id:
RCV000233053
RCV000566584
RCV000662749
RCV002503891
RCV003998793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ala23Val
CA049693
NM_001322007.2:c.68C>T