Canonical Allele Identifier: PA1139712547
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 970401
ClinVar RCV Id: RCV001245967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Ala187Val
CA356738055
NM_003924.4:c.560C>T