ClinGen Allele Registry
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Canonical Allele Identifier:
PA645400878
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267999
ClinVar RCV:
RCV000276804
RCV000704001
ClinVar Variation:
283762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Ala255Thr
CA10069743
NM_001848.3:c.763G>A