ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658664456
Gene: PHOX2B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467747
ClinVar RCV Id:
RCV000537295
RCV002420457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003915.2:p.Ala264Ser
CA356737133
NM_003924.4:c.790G>T