Canonical Allele Identifier: PA2580299309
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1749061
ClinVar RCV Id: RCV002347461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Thr190Ser
CA356737963
NM_003924.4:c.569C>G
CA356737970
NM_003924.4:c.568A>T