ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830200542
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000534861
RCV000710278
RCV002350143
ClinVar Variation:
448821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ser25500Thr
CA1988809
NM_133378.4:c.76499G>C