ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060706
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459772
ClinVar RCV Id:
RCV000548065
RCV000780195
RCV003528190
RCV002461293
RCV002476117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Glu658Lys
CA074843
NM_000090.4:c.1972G>A