ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150802
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
491637
ClinVar RCV:
RCV000596369
RCV001234893
ClinVar Variation:
500213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2769Val
CA2187412
NM_057167.4:c.8306C>T