ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830360320
Gene: EFCAB3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775774.1:p.Ser370Phe
CA8694109
NM_173503.4:c.1109C>T