ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA139447
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46892
ClinVar RCV Id:
RCV000040162
RCV000475442
RCV000725354
RCV002433511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596870.2:p.Met1001Arg
CA139441
NM_133379.5:c.3002T>G