ClinGen Allele Registry
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Canonical Allele Identifier:
PA645401064
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
268502
ClinVar RCV:
RCV000328793
RCV001855140
ClinVar Variation:
284265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Gln451Arg
CA10070260
NM_001848.3:c.1352A>G