ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788939
Gene: ECEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277716.1:p.Leu388Arg
CA2167388
NM_001290787.1:c.1163T>G