Canonical Allele Identifier: PA916044139
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450963
ClinVar RCV Id: RCV000521461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350688.1:p.Asp1800Glu
CA375075985
NM_001363759.2:c.5400C>A
CA375075992
NM_001363759.2:c.5400C>G