ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100247
Gene: TTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
28504
ClinVar RCV:
RCV001857350
ClinVar Variation:
13465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000362.1:p.Val50Gly
CA123118
NM_000371.3:c.149T>G