ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828119990
Gene: ADSL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204807
ClinVar RCV Id:
RCV000186703
RCV000193076
RCV000415212
RCV002513975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350769.1:p.Tyr114His
CA206321
NM_001363840.3:c.340T>C