ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828551208
Gene: DNAH8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000542574
RCV004023703
ClinVar Variation:
454555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362.2:p.Met4418Thr
CA3791814
NM_001371.4:c.13253T>C