ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA140648
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47312
ClinVar RCV Id:
RCV000040582
RCV000285232
RCV000334264
RCV000310657
RCV000396450
RCV000403418
RCV001083817
RCV000725033
RCV001170337
RCV002336144
RCV004541174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Glu24127Lys
CA140644
NM_001267550.2:c.72379G>A