ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826498416
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000248802
RCV000643704
RCV003137865
ClinVar Variation:
264232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val17351Ala
CA1994068
NM_001267550.2:c.52052T>C