ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827741623
Gene: SH3KBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2867083
ClinVar RCV Id:
RCV003700543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340821.1:p.Arg614Gln
CA412495343
NM_001353892.2:c.1841G>A