ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825413230
Gene: ENGASE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036038.1:p.Pro588Leu
CA8809965
NM_001042573.3:c.1763C>T