ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580299343
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1759330
ClinVar RCV Id:
RCV002393830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala251Ser
CA356737201
NM_003924.4:c.751G>T