ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA117654
Gene: TINF2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005981
RCV000032169
RCV000434257
RCV001054196
ClinVar Variation:
5627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092744.1:p.Arg282Cys
CA117653
NM_001099274.3:c.844C>T