ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830195261
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467172
ClinVar RCV Id:
RCV000531429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Pro12822Leu
CA60993148
NM_133378.4:c.38465C>T