ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742030209
Gene: SCN1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2830553
ClinVar RCV Id:
RCV003622900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_950238.1:p.Ala185Pro
CA405329294
NM_199037.5:c.553G>C