ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830220950
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230162
RCV000266392
RCV000270343
RCV000306715
RCV000361378
RCV000376043
RCV000769930
ClinVar Variation:
238849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Arg18041Trp
CA1989275
NM_133432.3:c.54121C>T