ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830206172
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228169
ClinVar RCV Id:
RCV000216475
RCV000643296
RCV001582732
RCV002363068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val29149Ile
CA1986999
NM_133378.4:c.87445G>A