ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829450609
Gene: SQSTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202212
ClinVar RCV Id:
RCV000254519
RCV000873998
RCV001157082
RCV001579939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003891.1:p.Ala117Val
CA346905
NM_003900.5:c.350C>T