ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826788909
Gene: ECEL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521056
ClinVar RCV Id:
RCV000623280
RCV000787365
RCV001809702
RCV001756022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277716.1:p.Leu165Pro
CA2167588
NM_001290787.1:c.494T>C