ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175770
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000150463
RCV000342133
RCV001095033
RCV001705987
ClinVar Variation:
163132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Ile4450Val
CA175769
NM_001369.3:c.13348A>G