ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645411327
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_068602.2:p.Pro618Leu
CA10634726
NM_021830.4:c.1853C>T