ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161499
Gene: PMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000525.1:p.Glu59Lys
NM_000534.5:c.174_175delinsTA
NM_000534.5:c.175G>A