ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139707
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46989
ClinVar RCV Id:
RCV000040259
RCV000725531
RCV001084767
RCV002408530
RCV004534898
RCV003149646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Val13526Ile
CA139704
NM_001256850.1:c.40576G>A