ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826204756
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000438763
RCV001039386
RCV001808804
ClinVar Variation:
380376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Val2383Ile
CA16605624
NM_001195532.2:c.7147G>A