Canonical Allele Identifier: PA097815
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
RCV000087050
ClinVar Variation:
100650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004817.2:p.Cys760Arg
CA150590
NM_004826.4:c.2278T>C