ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580372748
Gene: EPB41L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036288.2:p.Asn555Ser
CA9839937
NM_012156.2:c.1664A>G