ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825570020
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
316007
ClinVar RCV Id:
RCV000379941
RCV002522792
RCV003920326
RCV002522791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107606.1:p.Asn678Asp
CA7520140
NM_001114134.2:c.2032A>G