ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120336
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9385
ClinVar RCV Id:
RCV000009983
RCV000058705
RCV000183084
RCV001329632
RCV004528098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Asp1594Asn
CA018551
NM_000335.5:c.4780G>A