ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241409
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000724442
RCV000805848
RCV001729428
ClinVar Variation:
195127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Tyr44Cys
CA241408
NM_001130438.3:c.131A>G