ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044211
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_001350688.1:p.Val2429Ile
CA16605624
NM_001363759.2:c.7285G>A