Canonical Allele Identifier: PA2828577561
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505735
ClinVar RCV Id: RCV003235967
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001362243.1:p.Asp1776Glu
CA375075886
NM_001375314.2:c.5328C>G
CA375075889
NM_001375314.2:c.5328C>A