ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677483
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
454800
ClinVar RCV Id:
RCV000541637
RCV001152114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Thr2324Ala
CA3203227
NM_001369.3:c.6970A>G