Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA307226

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67636

ClinVar RCV Id: RCV000058393 RCV000678842 RCV001256850 RCV001841770 RCV003224130 RCV003162453 RCV003541161

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Thr370Met	CA014345 NM_198056.3:c.1109C>T