ClinGen Allele Registry
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Canonical Allele Identifier:
PA139021
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000039983
RCV000248207
RCV000278120
RCV000284280
RCV000331984
RCV000337890
RCV000372590
RCV000373899
RCV000755421
RCV000770071
RCV001529703
ClinVar Variation:
46713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ser6482Leu
CA139019
NM_133378.4:c.19445C>T