ClinGen Allele Registry
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Canonical Allele Identifier:
PA658659331
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
469745
ClinVar RCV:
RCV000555212
RCV003139856
ClinVar Variation:
476427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Arg872Gln
CA10070982
NM_001848.3:c.2615G>A