ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981382
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000443754
RCV002521654
ClinVar Variation:
383875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Ala429Val
CA5264352
NM_003127.4:c.1286C>T