ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113494
Gene: AP2S1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39424
ClinVar RCV Id:
RCV000032619
RCV001228882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004060.2:p.Arg15Cys
CA130281
NM_004069.6:c.43C>T