ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580299337
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2428942
ClinVar RCV Id:
RCV003123183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala257_Ala260del
CA2670427150
NM_003924.4:c.747_758del