Canonical Allele Identifier: PA915978270
Gene: DYNC2H1 HGNC NCBI
ClinVar RCV:
RCV000516127
ClinVar Variation:
446688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001368.2:p.Cys2054Ser
CA382246948
NM_001377.3:c.6160T>A
CA382246951
NM_001377.3:c.6161G>C