ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA141250
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040787
RCV000172200
RCV000472772
RCV001134952
RCV001134953
RCV001134954
RCV001134955
RCV001134956
RCV002354221
RCV003486607
ClinVar Variation:
47518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ala30681Asp
CA141246
NM_001267550.2:c.92042C>A