ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA141248
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47518
ClinVar RCV Id:
RCV000040787
RCV000172200
RCV000472772
RCV001134954
RCV001134956
RCV001134952
RCV001134953
RCV001134955
RCV002354221
RCV003486607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ala28113Asp
CA141246
NM_133378.4:c.84338C>A