ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829284103
Gene: ENGASE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001382981.1:p.Ser66Phe
CA8809257
NM_001396052.1:c.197C>T