ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829438807
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000040618
RCV000172252
RCV000271372
RCV000303107
RCV000306562
RCV000365850
RCV000400010
RCV001085393
RCV003448252
RCV003486598
RCV004541177
ClinVar Variation:
47348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Asp16493Val
CA140756
NM_003319.4:c.49478A>T