ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825964091
Gene: TWNK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
371494
ClinVar RCV:
RCV000726623
RCV001105997
RCV001105998
RCV001105999
RCV001106000
RCV001848766
RCV003993959
RCV004533016
ClinVar Variation:
383137
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157286.1:p.Tyr83His
CA5653294
NM_001163814.2:c.247T>C