ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827292820
Gene: SCN8A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000118288
RCV000239630
RCV000239702
RCV000416967
RCV000467598
RCV002274920
RCV003992186
ClinVar Variation:
130252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317189.1:p.Asn1877Ser
CA289040
NM_001330260.2:c.5630A>G