ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830188526
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2642071
ClinVar RCV Id:
RCV003398074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_573573.2:p.Arg1084Gly
CA6160788
NM_133266.5:c.3250C>G