ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826199845
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2136752
ClinVar RCV Id:
RCV003037319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182177.2:p.Ser242Asn
CA321109
NM_001195248.2:c.725G>A