ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA238085
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192006
ClinVar RCV Id:
RCV000172378
RCV000457855
RCV000596358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Cys7821Arg
CA238084
NM_133378.4:c.23461T>C