ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826500586
Gene: PEMT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001693056
ClinVar Variation:
1279483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254480.1:p.Val190Met
CA8417709
NM_001267551.1:c.568G>A