ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981570
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189541
ClinVar Variation:
207367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Ser889del
CA318763
NM_003127.4:c.2666_2668del