ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115345
Gene: ANKK1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000002186
RCV000594759
RCV003633479
RCV003974790
ClinVar Variation:
2105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_848605.1:p.Glu713Lys
CA115344
NM_178510.2:c.2137G>A