ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140282
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040464
RCV000172292
RCV000248255
RCV000269467
RCV000328753
RCV000332764
RCV000367338
RCV000382596
RCV000852826
RCV001080206
ClinVar Variation:
47194
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Arg18550Trp
CA140280
NM_133378.4:c.55648C>T