ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828304684
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2230216
ClinVar RCV Id:
RCV002717498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355927.1:p.Ser212Ile
CA373177338
NM_001368998.1:c.635G>T