Allele Registry

Canonical Allele Identifier: PA645427219

Gene: PHOX2B HGNC NCBI

ClinVar RCV:

RCV000268582

RCV000323710

RCV001026770

RCV001507229

RCV003151040

RCV003228923

ClinVar Variation:

348809

HGVS (amino-acid)	Matching Registered Transcripts
NP_003915.2:p.Ala258Glu	CA2901428 NM_003924.4:c.773C>A