ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139754
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040278
RCV000172668
RCV000251802
RCV000262089
RCV000296178
RCV000331321
RCV000332423
RCV000385584
RCV000767391
RCV000769009
RCV001082393
RCV004534901
ClinVar Variation:
47008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val13182Ile
CA139752
NM_133378.4:c.39544G>A