ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573081361
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1338207
ClinVar RCV Id:
RCV001822805
RCV001869776
RCV003416482
RCV003481133
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Ile118Val
CA402916373
NM_001972.4:c.352A>G