ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3081919880
Gene: EPB42
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Arg310Pro
CA392116243
NM_000119.3:c.929G>C