ClinGen Allele Registry
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Canonical Allele Identifier:
PA645373651
Gene: EPB42
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
255218
ClinVar RCV:
RCV000249237
RCV000296485
RCV000899320
ClinVar Variation:
255148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Arg457Cys
CA7520373
NM_000119.3:c.1369C>T