ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828305115
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_001355931.1:p.Arg157His
CA319960
NM_001369002.1:c.470G>A