ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580359290
Gene: EHD3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2218955
ClinVar RCV:
RCV004087137
ClinVar Variation:
2226925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055415.1:p.Val533Ala
CA1598135
NM_014600.3:c.1598T>C