ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864244
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000526.2:p.Lys179del
NM_000535.7:c.535_537del
NM_000535.7:c.[535_537del;539A=]
NM_000535.7:c.[535_537del;540G>A]
NM_000535.7:c.[535_537del;540G=]