ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA263751
Gene: SLC7A7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56344
ClinVar RCV Id:
RCV000049757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119578.1:p.Thr5Ile
CA263748
NM_001126106.4:c.14C>T