ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963565
Gene: TWNK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
279715
ClinVar RCV Id:
RCV000320273
RCV001107963
RCV001107965
RCV001107964
RCV001102728
RCV001848043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Leu81Val
CA5653043
NM_001163812.2:c.241C>G