ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083950140
Gene: PEMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009100.2:p.Val58Phe
CA398543925
NM_007169.3:c.172G>T