ClinGen Allele Registry
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Canonical Allele Identifier:
PA645400931
Gene: COL6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
266171
ClinVar RCV:
RCV000319412
RCV000794729
RCV002519102
ClinVar Variation:
281934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Tyr339His
CA10070036
NM_001848.3:c.1015T>C