ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455111
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
286083
ClinVar RCV:
RCV000349597
RCV002523124
RCV003144224
ClinVar Variation:
335124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala1288Thr
CA2189057
NM_004369.4:c.3862G>A