ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828576900
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362243.1:p.Val444Leu
CA375053186
NM_001375314.2:c.1330G>C