ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830371030
Gene: EPB41L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402208
ClinVar RCV Id:
RCV000454281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_818932.1:p.Arg564Cys
CA16609541
NM_177996.2:c.1690C>T