ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812278
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535767
ClinVar RCV Id:
RCV000643941
RCV002334129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala163Ser
CA356738578
NM_003924.4:c.487G>T