ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827132302
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3232021
ClinVar RCV Id:
RCV004518736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Val547Ala
CA366734739
NM_001322012.1:c.1640T>C