ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580299353
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1761837
ClinVar RCV Id:
RCV002419349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Pro269Ser
CA356737108
NM_003924.4:c.805C>T