ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830288174
Gene: PEMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_680478.1:p.Val175Met
CA8417709
NM_148173.2:c.523G>A