ClinGen Allele Registry
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Canonical Allele Identifier:
PA658664404
Gene: PHOX2B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000536791
RCV001021436
RCV003476288
ClinVar Variation:
467725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Leu131Val
CA2901525
NM_003924.4:c.391C>G