ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828639115
Gene: EPB41
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362953.1:p.Ser465Asn
CA339526849
NM_001376024.1:c.1394G>A