ClinGen Allele Registry
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Canonical Allele Identifier:
PA239196
Gene: DNAH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
186050
1877798
ClinVar RCV:
RCV000219496
RCV000665936
RCV000724138
RCV001083198
RCV003058225
ClinVar Variation:
188080
2136791
JSON-LD
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