ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139699911
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
851966
ClinVar RCV Id:
RCV001796359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Arg220Pro
CA303945312
NM_001972.4:c.659G>C