ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387954
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
351193
ClinVar RCV Id:
RCV000288879
RCV001095000
RCV001584067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Lys1060Met
CA3204354
NM_001369.3:c.3179A>T