ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830235154
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000172267
RCV000217947
RCV000466252
ClinVar Variation:
191906
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Ile14518Thr
CA237836
NM_133437.4:c.43553T>C