ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664396
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
486030
ClinVar RCV Id:
RCV000565021
RCV000643944
RCV000764535
RCV002510925
RCV003471903
RCV003945354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ser76Thr
CA2901598
NM_003924.4:c.227G>C