ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741936072
Gene: EMILIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3037730
ClinVar RCV Id:
RCV003917114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008977.1:p.Glu903Lys
CA1569005
NM_007046.4:c.2707G>A