ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829284196
Gene: ENGASE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001382982.1:p.Glu418Gln
CA8809769
NM_001396053.1:c.1252G>C