Canonical Allele Identifier: PA645418087
Gene: SPTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258953
ClinVar RCV Id: RCV000244790 RCV000302916 RCV000359954 RCV000395816 RCV000756690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Gln2146Arg
CA1181979
NM_003126.2:c.6437A>G