ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825963653
Gene: TWNK
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000198396
RCV000727648
RCV000855770
ClinVar Variation:
214174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157284.1:p.Asn246Ser
CA322899
NM_001163812.2:c.737A>G