ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145094
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
271679
ClinVar RCV:
RCV000284694
RCV002521973
ClinVar Variation:
287442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Ser240Thr
CA2189510
NM_057164.5:c.718T>A