ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076838
Gene: DYNC2H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368.2:p.Ser386Phe
CA6252703
NM_001377.3:c.1157C>T