ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA310003
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202693
ClinVar RCV Id:
RCV000526855
RCV000764331
RCV001704906
RCV004526631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val17083Phe
CA310001
NM_001267550.2:c.51247G>T