ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826016051
Gene: EPB41
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159478.1:p.Ser660Asn
CA339526849
NM_001166006.2:c.1979G>A