ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829417793
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433115
ClinVar RCV Id:
RCV000656027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Asn2280Ser
CA375098046
NM_003127.4:c.6839A>G