Canonical Allele Identifier: PA645417699
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 293030
ClinVar RCV Id: RCV000271802 RCV000307142 RCV000366492 RCV000880557
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu577Phe
CA1183636
NM_003126.2:c.1731G>T
CA343009014
NM_003126.2:c.1731G>C