ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA178492
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130681
ClinVar RCV Id:
RCV000118782
RCV000152210
RCV001083638
RCV000618164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Val23731Asp
CA178490
NM_133378.4:c.71192T>A