ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829284309
Gene: ENGASE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001382984.1:p.Pro473Leu
CA8809808
NM_001396055.1:c.1418C>T