Canonical Allele Identifier: PA117907
Gene: PHOX2B HGNC NCBI
ClinVar RCV:
RCV000006383
ClinVar Variation:
6012
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003915.2:p.Arg141Gly
CA117905
NM_003924.4:c.421C>G