ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915975514
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
696654
ClinVar RCV Id:
RCV000863118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Pro2948Ser
CA3202692
NM_001369.3:c.8842C>T