ClinGen Allele Registry
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Canonical Allele Identifier:
PA148029
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94986
ClinVar RCV Id:
RCV000080991
RCV000548028
RCV004019560
RCV004549516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ser2467Leu
CA148027
NM_004369.4:c.7400C>T