ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA239819
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194035
ClinVar RCV Id:
RCV000174297
RCV000463597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Arg529Trp
CA239818
NM_001369.3:c.1585C>T