ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150656
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000593637
RCV001216322
ClinVar Variation:
499043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val2592Ala
CA2187562
NM_057167.4:c.7775T>C