ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828113835
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
202456
ClinVar RCV:
RCV000189539
RCV000636383
RCV001808525
RCV002317652
RCV003488443
ClinVar Variation:
207365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Asp2446Asn
CA318759
NM_001363765.2:c.7336G>A