ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830237295
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000040663
RCV000617992
RCV000726121
RCV001079917
RCV001132747
RCV001132748
RCV001132749
RCV001136159
RCV001136160
RCV001798182
ClinVar Variation:
47393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_597681.4:p.Glu18122Lys
CA140873
NM_133437.4:c.54364G>A