ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741876735
Gene: DYNC1H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ser4548Leu
CA7354294
NM_001376.5:c.13643C>T