ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580570267
Gene: EFCAB12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997190.1:p.Ala542Val
CA354452017
NM_207307.3:c.1625C>T