ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499269126
Gene: ECEL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004817.2:p.Met506Val
CA2167250
NM_004826.4:c.1516A>G