ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826064141
Gene: EFHC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1055116
ClinVar RCV Id:
RCV003771096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165891.1:p.Ala501Thr
CA3856122
NM_001172420.2:c.1501G>A