ClinGen Allele Registry
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Canonical Allele Identifier:
PA658810704
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
490971
ClinVar RCV:
RCV000592371
RCV001294288
ClinVar Variation:
499547
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Ala950Thr
CA10071050
NM_001848.3:c.2848G>A