Canonical Allele Identifier: PA2741900841
Gene: SPTA1 HGNC NCBI
ClinVar RCV:
RCV003677256
ClinVar Variation:
2808972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003117.2:p.Leu2287Ser
CA343013176
NM_003126.2:c.6860T>C