ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427219
Gene: PHOX2B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala258Glu
CA2901428
NM_003924.4:c.773C>A