ClinGen Allele Registry
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Canonical Allele Identifier:
PA645400982
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267131
ClinVar RCV:
RCV000272761
RCV000401661
RCV001079041
ClinVar Variation:
282894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Glu372Gly
CA10070083
NM_001848.3:c.1115A>G