ClinGen Allele Registry
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Canonical Allele Identifier:
PA916044175
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189524
RCV001089073
RCV001808519
ClinVar Variation:
207350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Lys2103Arg
CA318730
NM_001363759.2:c.6308A>G