ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231598
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130666
ClinVar RCV Id:
RCV000118752
RCV000209291
RCV000525548
RCV001542652
RCV003235044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val13520Leu
CA231595
NM_001267550.2:c.40558G>C