ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA311807
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203248
ClinVar RCV Id:
RCV000456623
RCV001721179
RCV002336491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Leu162Gln
CA311804
NM_001267550.2:c.485T>A