ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830235379
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000231238
RCV002327125
RCV003137845
ClinVar Variation:
238834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ile14846Val
CA1990671
NM_133437.4:c.44536A>G