ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829456315
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239590
ClinVar RCV Id:
RCV000228468
RCV000571701
RCV001658060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala248_Ala260del