ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830237168
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000552086
RCV000619182
RCV000769933
RCV000828890
ClinVar Variation:
467528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Pro17948Leu
CA1989341
NM_133437.4:c.53843C>T