ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139122
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46752
ClinVar RCV Id:
RCV000040022
RCV000118744
RCV001087646
RCV004541139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Ala8363Ser
CA139118
NM_001267550.2:c.25087G>T