ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA141330
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
47552
ClinVar RCV Id:
RCV000040821
RCV000172617
RCV000620427
RCV001131620
RCV001079500
RCV001131619
RCV001131616
RCV001131617
RCV001131618
RCV001170761
RCV004534943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243779.1:p.Arg30107Cys
CA141327
NM_001256850.1:c.90319C>T