ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499279464
Gene: DOLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044644
ClinVar RCV Id:
RCV002329338
RCV001348917
RCV003317483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055723.1:p.Ser393Phe
CA200444546
NM_014908.4:c.1178C>T