ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658813988
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499001
ClinVar RCV Id:
RCV000596484
RCV002483599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Phe14144Ile
CA349654857
NM_001267550.2:c.42430T>A