ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830212738
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000252473
RCV000546848
RCV000615733
ClinVar Variation:
264496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597676.3:p.Ile3749Val
CA2002783
NM_133432.3:c.11245A>G