Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA915975137

Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 802108

ClinVar RCV Id: RCV000987505

ClinVar Variation Id: 2086150

ClinVar RCV Id: RCV003007341

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001360.1:p.Gln632His	CA3204718 NM_001369.3:c.1896G>C CA359205575 NM_001369.3:c.1896G>T