ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101365
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495228
ClinVar RCV Id:
RCV000585894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Pro205Arg
CA402918904
NM_001972.4:c.614C>G