ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150515
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
269028
ClinVar RCV:
RCV000265030
RCV001068819
RCV001141187
ClinVar Variation:
284791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2405Val
CA2187688
NM_057167.4:c.7214C>T