ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146127
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
172218
ClinVar RCV:
RCV000371027
RCV000727373
RCV000804572
ClinVar Variation:
162554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Ala563Thr
CA295323
NM_057165.5:c.1687G>A