Canonical Allele Identifier: PA2573231249
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1431039
ClinVar RCV Id: RCV001948498 RCV002388882
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Ala250Glu
CA356737205
NM_003924.4:c.749C>A