Canonical Allele Identifier: PA2580299347
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1760499
ClinVar RCV Id: RCV002409718
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaGluAlaAla
CA2580070997
NM_003924.4:c.776_777insGGCGGCAGCGGCAGCGGAGGC