ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830191783
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595289
RCV000726573
RCV000769099
RCV001087649
RCV002381619
ClinVar Variation:
203174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro3350Leu
CA311577
NM_133378.4:c.10049C>T