ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100360
Gene: PHOX2A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005160.2:p.Ala72Val
NM_005169.4:c.215C>T