Canonical Allele Identifier: PA2827791807
Gene: STAMBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1467635
ClinVar RCV Id: RCV001966474

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340905.1:p.Thr216Ser
CA1717696
NM_001353976.2:c.647C>G
CA347293333
NM_001353976.2:c.646A>T