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: PA645395993

Gene: DYNC1H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373929

ClinVar RCV Id: RCV000414994

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001367.2:p.Ile601Asn	CA16043478 NM_001376.5:c.1802T>A