ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826200297
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214121
ClinVar RCV Id:
RCV000195599
RCV003765258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182181.2:p.Arg173His
CA319960
NM_001195252.2:c.518G>A