ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161512
Gene: PMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000525.1:p.Arg202Lys
CA161510
NM_000534.5:c.605G>A