ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139840
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47042
ClinVar RCV Id:
RCV000040312
RCV000284717
RCV000288386
RCV000324575
RCV000339767
RCV000404730
RCV000539364
RCV000770017
RCV001703901
RCV002426575
RCV004541159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ile16788Thr
CA139836
NM_001267550.2:c.50363T>C