ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827096675
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490103
ClinVar RCV Id:
RCV000579499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308932.1:p.Ile9Phe
CA366744364
NM_001322003.2:c.25A>T