ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826063945
Gene: EFHC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002149
ClinVar Variation:
2068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165891.1:p.Ile155Val
CA115324
NM_001172420.2:c.463A>G