ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499265198
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037999
ClinVar RCV Id:
RCV001341243
RCV002256745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala245Val
CA356737232
NM_003924.4:c.734C>T