ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830145304
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
250691
ClinVar RCV:
RCV000242993
RCV000725228
RCV001141744
RCV001326529
ClinVar Variation:
259297
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Glu485Lys
CA2189345
NM_057164.5:c.1453G>A