Canonical Allele Identifier: PA2580299306
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1720133
ClinVar RCV Id: RCV002297949

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Asp181Glu
CA356738234
NM_003924.4:c.543C>A
CA356738235
NM_003924.4:c.543C>G