ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829417391
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
661303
ClinVar RCV Id:
RCV000818691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Ala1860Asp
CA375077438
NM_003127.4:c.5579C>A