ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830191761
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000642866
RCV001704948
RCV002372139
RCV003150078
RCV003330548
ClinVar Variation:
203172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Lys3284Arg
CA311567
NM_133378.4:c.9851A>G