ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150603
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
194195
ClinVar RCV:
RCV000177942
RCV000254307
RCV000270502
RCV001081264
RCV002226459
ClinVar Variation:
197034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ala2524Asp
CA244931
NM_057167.4:c.7571C>A