ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580128777
Gene: EML1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008707.1:p.Lys771Thr
CA7342907
NM_001008707.2:c.2312A>C