Canonical Allele Identifier: PA2826788941
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
RCV000224050
ClinVar Variation:
235819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277716.1:p.Arg395Gln
CA10581434
NM_001290787.1:c.1184G>A