ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA072196
Gene: EFHD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221941
ClinVar RCV Id:
RCV000207392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079478.1:p.Thr82Met
CA072170
NM_025202.3:c.245C>T