ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830207057
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467303
ClinVar RCV Id:
RCV000527329
RCV001130066
RCV001130068
RCV001135100
RCV001135101
RCV003139809
RCV001130067
RCV002438409
RCV002476165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val16619Ile
CA1993021
NM_133378.4:c.49855G>A