ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499254848
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199336
ClinVar RCV Id:
RCV001563896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Gln2723Leu
CA359221177
NM_001369.3:c.8168A>T