ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829795970
Gene: EMC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055862.1:p.His583Tyr
CA338760532
NM_015047.3:c.1747C>T