ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830149524
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
450899
ClinVar RCV:
RCV000546203
RCV000727675
RCV000765643
ClinVar Variation:
476523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ile1231Phe
CA2188918
NM_057167.4:c.3691A>T