Canonical Allele Identifier: PA2827791520
Gene: STAMBP HGNC NCBI
ClinVar RCV:
RCV001966474
ClinVar Variation:
1467635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340901.1:p.Thr216Ser
CA1717696
NM_001353972.2:c.647C>G
CA347293333
NM_001353972.2:c.646A>T