Canonical Allele Identifier: PA645461509
Gene: ECEL1 HGNC NCBI
ClinVar RCV:
RCV000499873
ClinVar Variation:
435022
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004817.2:p.Trp403Cys
CA351000020
NM_004826.4:c.1209G>T
CA351000021
NM_004826.4:c.1209G>C