Canonical Allele Identifier: PA2827741253
Gene: SH3KBP1 HGNC NCBI
ClinVar RCV:
RCV003672575
ClinVar Variation:
2794009
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340820.1:p.Thr639Ala
CA412495693
NM_001353891.1:c.1915A>G