ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580339353
Gene: EMILIN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008977.1:p.Arg406Leu
CA1568656
NM_007046.4:c.1217G>T