ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA331773
Gene: PMS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000526.1:p.Gln317Ter
NM_000535.5:c.949C>T