ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148527
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95013
ClinVar RCV Id:
RCV000081018
RCV000375437
RCV001517164
RCV000710917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Met2381Val
CA148083
NM_057166.5:c.7141A>G