ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829438560
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000543490
RCV000733724
RCV002341351
ClinVar Variation:
467478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Ala16022Thr
CA1990080
NM_003319.4:c.48064G>A