ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830207397
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000534467
RCV000727715
RCV003226240
ClinVar Variation:
202743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val17318Gly
CA310149
NM_133378.4:c.51953T>G