ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356410
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
221603
ClinVar RCV:
RCV000206793
RCV000585417
RCV000666957
ClinVar Variation:
219719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ala192Thr
CA350789
NM_001369.3:c.574G>A