ClinGen Allele Registry
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Canonical Allele Identifier:
PA181832
Gene: TTN
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
173178
ClinVar RCV:
RCV000154957
RCV000531792
RCV001589014
RCV003149947
ClinVar Variation:
178222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Val13144Ile
CA181830
NM_001267550.2:c.39430G>A