ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741868587
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003653059
ClinVar Variation:
2917718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Glu187Lys
CA3205149
NM_001369.3:c.559G>A