ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026693
Gene: EFL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522584
ClinVar RCV Id:
RCV000625722
RCV003558479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309773.1:p.Arg832Gln
CA7697593
NM_001322844.2:c.2495G>A