ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580249825
Gene: EBLN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001381686.1:p.Ala218Val
CA5435947
NM_001394757.1:c.653C>T