ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825334164
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003672575
ClinVar Variation:
2794009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019837.1:p.Thr577Ala
CA412495693
NM_001024666.3:c.1729A>G