ClinGen Allele Registry
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Canonical Allele Identifier:
PA138723
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000039869
RCV000245443
RCV000273361
RCV000277012
RCV000331058
RCV000356589
RCV000369337
RCV000416068
RCV000769081
RCV000852913
RCV001079457
RCV002227928
RCV003993764
ClinVar Variation:
46599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val5060Leu
CA138719
NM_001267550.2:c.15178G>C