ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828287884
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298504
ClinVar RCV Id:
RCV000271132
RCV000274568
RCV000310922
RCV000365721
RCV000429667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355204.1:p.Pro164Leu
CA10634726
NM_001368275.1:c.491C>T