ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245097
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197134
ClinVar RCV Id:
RCV000286779
RCV000303252
RCV000399551
RCV000400438
RCV000713125
RCV000812584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Asp185Asn
CA245096
NM_000334.4:c.553G>A