ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827416780
Gene: EPB41L4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183292
ClinVar RCV Id:
RCV000162113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334816.1:p.Ser433Leu
CA186050
NM_001347887.2:c.1298C>T