ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499298386
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_680477.1:p.Val212Met
CA8417709
NM_148172.2:c.634G>A