ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499298386
Gene: PEMT
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_680477.1:p.Val212Met
NM_148172.2:c.634G>A