ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174741
Gene: EFCAB6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161763
ClinVar RCV Id:
RCV000149299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073622.2:p.Pro105Leu
CA174740
NM_022785.4:c.314C>T