ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827134017
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784567
ClinVar RCV Id:
RCV002419596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ala483Val
CA366738167
NM_001322013.1:c.1448C>T