Canonical Allele Identifier: PA645417629
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258915
ClinVar RCV Id: RCV000248680 RCV000325111 RCV000267684 RCV000382110 RCV000966764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Thr360Ser
CA1183923
NM_003126.2:c.1078A>T
CA343017651
NM_003126.2:c.1079C>G