ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916052945
Gene: ASS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430139
ClinVar RCV Id:
RCV000493705
RCV000672066
RCV001290024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_446464.1:p.Glu283Lys
CA5283562
NM_054012.4:c.847G>A