ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830207441
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
392253
ClinVar RCV:
RCV000468492
RCV000517916
RCV000852886
RCV001572975
ClinVar Variation:
405065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val7533Ile
CA2000027
NM_133378.4:c.22597G>A