ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826424257
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040723
RCV000232855
RCV000768877
RCV000997368
RCV002354208
ClinVar Variation:
47454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Thr27183Ile
CA141051
NM_001256850.1:c.81548C>T