ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828631345
Gene: EMC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362750.1:p.His585Tyr
CA338760532
NM_001375821.1:c.1753C>T