ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146270
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
267257
ClinVar RCV:
RCV000347536
RCV000689418
ClinVar Variation:
283020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Arg749His
CA2189307
NM_057165.5:c.2246G>A