ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826517753
Gene: EMC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258357.1:p.His582Tyr
CA338760532
NM_001271428.2:c.1744C>T