Canonical Allele Identifier: PA2829417368
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2630172
ClinVar RCV Id: RCV004550613

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003118.2:p.Asn1834Lys
CA375076966
NM_003127.4:c.5502C>G
CA375076967
NM_003127.4:c.5502C>A