ClinGen Allele Registry
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Canonical Allele Identifier:
PA186051
Gene: EPB41L4A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071423.3:p.Ser433Leu
CA186050
NM_022140.3:c.1298C>T