ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044178
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Arg2124Cys
CA375088545
NM_001363759.2:c.6370C>T