ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA114868
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1234
ClinVar RCV Id:
RCV000001293
RCV001378638
RCV003323346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Met482Lys
CA114867
NM_152419.3:c.1445T>A