ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830474686
Gene: EPB41
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_976217.1:p.Ser451Asn
CA339526849
NM_203342.3:c.1352G>A