ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677382
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450766
ClinVar RCV Id:
RCV000523333
RCV001087092
RCV003915469
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Tyr1107Phe
CA3204309
NM_001369.3:c.3320A>T