ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147663
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
450669
ClinVar RCV:
RCV000543905
RCV000593713
RCV001329871
RCV002526737
ClinVar Variation:
476537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Glu1305Lys
CA2188590
NM_057166.5:c.3913G>A