ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196956
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
620600
ClinVar RCV Id:
RCV000761030
RCV002343612
RCV003633542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Glu186Lys
CA356738112
NM_003924.4:c.556G>A