ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645460929
Gene: ELANE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242275
ClinVar RCV Id:
RCV000227588
RCV001857779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001963.1:p.Ala8Thr
CA9025899
NM_001972.4:c.22G>A