ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580540320
Gene: DNAH17
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2370067
ClinVar RCV Id:
RCV003004342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775899.3:p.Glu4194Lys
CA8799988
NM_173628.4:c.12580G>A