ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3066544062
Gene: PMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000525.1:p.Glu59Gln
CA349879255
NM_000534.5:c.175G>C