ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388709
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000475199
RCV001157487
RCV001662438
ClinVar Variation:
414348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg2713Cys
CA3202891
NM_001369.3:c.8137C>T