Canonical Allele Identifier: PA2826788947
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
RCV000032688
ClinVar Variation:
39492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277716.1:p.Arg418Cys
CA130334
NM_001290787.1:c.1252C>T
CA645372711
NM_001290787.1:c.[1252C>T;590G>A]