Canonical Allele Identifier: PA2826788946
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
RCV000032686
ClinVar Variation:
39490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277716.1:p.Arg418Ser
CA130332
NM_001290787.1:c.1252C>A
CA645372712
NM_001290787.1:c.[1252C>A;1184+3A>T]