ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA324978
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214178
ClinVar RCV Id:
RCV000267823
RCV000322888
RCV000326494
RCV000381173
RCV000712523
RCV001838991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Ala659Thr
CA324977
NM_021830.4:c.1975G>A