ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712309
Gene: PHOX2B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001093375
ClinVar Variation:
872742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Arg100His
CA356740397
NM_003924.4:c.299G>A