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: PA2741875389

Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2713397

ClinVar RCV Id: RCV003529010 RCV004369050

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001367.2:p.Arg602Cys	CA7351735 NM_001376.5:c.1804C>T