ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827131554
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2451611
ClinVar RCV Id:
RCV003187307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Leu353Ile
CA366738926
NM_001322012.1:c.1057C>A