ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827119192
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2677913
ClinVar RCV Id:
RCV003463318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Pro548Ala
CA366739071
NM_001322007.2:c.1642C>G