ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645501314
Gene: AP4B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393216
ClinVar RCV Id:
RCV000421168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006585.2:p.Pro77Leu
CA16603385
NM_006594.5:c.230C>T