ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112999
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Ile494Met
CA366739421
NM_001322005.2:c.1482A>G