Canonical Allele Identifier: PA1139744049
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966208
ClinVar RCV Id: RCV001240830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362247.1:p.Gln2334Leu
CA375098602
NM_001375318.1:c.7001A>T