ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147919
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
100865
ClinVar RCV:
RCV000080970
RCV002514420
ClinVar Variation:
94965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Ala1601Ser
CA222640
NM_057166.5:c.4801G>T