ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829417821
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001785332
ClinVar Variation:
1325795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Gln2299_Gly2301del
CA913184752
NM_003127.4:c.6895_6903del