ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645377275
Gene: APTX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290957
ClinVar RCV Id:
RCV000324352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_778243.1:p.Pro330His
CA10606959
NM_175073.3:c.989C>A