Canonical Allele Identifier: PA2741903998
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2727578
ClinVar RCV Id: RCV003518551

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Ser189Arg
CA356737978
NM_003924.4:c.567C>G
CA356737980
NM_003924.4:c.567C>A
CA356738011
NM_003924.4:c.565A>C