ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA345652
Gene: EPB42
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132633
ClinVar RCV Id:
RCV000119050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000110.2:p.Asp175Tyr
CA345651
NM_000119.3:c.523G>T