ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826519402
Gene: EMC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258358.1:p.His561Tyr
CA338760532
NM_001271429.2:c.1681C>T