ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645400686
Gene: COL6A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285634
ClinVar RCV Id:
RCV000274990
RCV001088541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Leu137Val
CA10069556
NM_001848.3:c.409C>G