ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829430623
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000312966
RCV000348061
RCV000367691
RCV000402905
RCV000404788
ClinVar Variation:
332951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003310.4:p.Leu2127Val
CA2005016
NM_003319.4:c.6379T>G