ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807270
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
505358
ClinVar RCV Id:
RCV000612487
RCV001829709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Val1299Phe
CA3204138
NM_001369.3:c.3895G>T