ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139331
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46841
ClinVar RCV Id:
RCV000040111
RCV000172682
RCV000577956
RCV000578036
RCV000578117
RCV001129423
RCV000852879
RCV001084360
RCV001129424
RCV004541143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val10240Phe
CA139329
NM_001267550.2:c.30718G>T