ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145204
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
274404
ClinVar RCV:
RCV000378139
RCV001329867
ClinVar Variation:
290167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Arg361His
CA2189433
NM_057164.5:c.1082G>A