Canonical Allele Identifier: PA2741873095
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630172
ClinVar RCV Id: RCV004550613

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362247.1:p.Asn1851Lys
CA375076966
NM_001375318.1:c.5553C>G
CA375076967
NM_001375318.1:c.5553C>A