ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788992
Gene: ECEL1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000148953
RCV001588999
ClinVar Variation:
161451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277716.1:p.Ala673Thr
CA174029
NM_001290787.1:c.2017G>A