ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265206
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1172785
ClinVar RCV Id:
RCV001647348
RCV002424966
RCV003771626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Pro277Thr
CA356737058
NM_003924.4:c.829C>A