ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826200328
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286950
ClinVar RCV Id:
RCV000351313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182181.2:p.Arg246His
CA5022242
NM_001195252.2:c.737G>A