ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829416594
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307949
ClinVar RCV Id:
RCV001772804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Tyr918His
CA375058542
NM_003127.4:c.2752T>C