ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580207819
Gene: PMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307977.1:p.Asp476Gly
CA2026662
NM_001321048.2:c.1427A>G