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: PA094581

Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 179699

ClinVar RCV Id: RCV000156495 RCV000556129 RCV000778752 RCV002510797

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Arg2501Pro	CA184953 NM_001369.3:c.7502G>C