ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239196
Gene: DNAH5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188080
ClinVar RCV Id:
RCV000219496
RCV000724138
RCV000665936
RCV001083198
ClinVar Variation Id:
2136791
ClinVar RCV Id:
RCV003058225
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001360.1:p.Asn402Lys
CA239195
NM_001369.3:c.1206T>A
CA3204913
NM_001369.3:c.1206T>G