ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645421867
Gene: DNAH8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000231429
RCV004020782
ClinVar Variation:
238658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193856.1:p.Val3237Ala
CA3790531
NM_001206927.2:c.9710T>C