ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645373651
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255148
ClinVar RCV Id:
RCV000249237
RCV000296485
RCV000899320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Arg457Cys
CA7520373
NM_000119.3:c.1369C>T