ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA323753
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214177
ClinVar RCV Id:
RCV000199218
RCV000284653
RCV000402465
RCV000300073
RCV000339690
RCV000909034
RCV004530166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068602.2:p.Lys566Arg
CA323752
NM_021830.4:c.1697A>G