ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455084
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274574
ClinVar RCV:
RCV000318950
RCV000404395
RCV000530876
ClinVar Variation:
290337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala1124Val
CA2189180
NM_004369.4:c.3371C>T