ClinGen Allele Registry
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Canonical Allele Identifier:
PA645387850
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
295560
ClinVar RCV:
RCV000336304
RCV000765816
RCV000825330
RCV001770279
ClinVar Variation:
351208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Leu572Trp
CA3204763
NM_001369.3:c.1715T>G