ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA345656
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132635
ClinVar RCV Id:
RCV000119052
RCV003488394
RCV001508386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Arg317Cys
CA345655
NM_000119.3:c.949C>T