ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645461507
Gene: ECEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000224050
ClinVar Variation:
235819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004817.2:p.Arg395Gln
CA10581434
NM_004826.4:c.1184G>A