ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828082101
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1232
ClinVar RCV Id:
RCV000001291
RCV000504894
RCV000512873
RCV000763184
RCV003330379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Pro283Leu
CA114863
NM_001363227.2:c.848C>T