ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827068497
Gene: PMS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307973.1:p.Glu308Lys
CA349876244
NM_001321044.2:c.922G>A