ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259914
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1036887
ClinVar RCV Id:
RCV001796451
RCV001820036
RCV003738047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Gln102Arg
CA303943298
NM_001972.4:c.305A>G