ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061106
Gene: COL3A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087468
ClinVar Variation:
101231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Leu1021del
CA005993
NM_000090.4:c.3062_3064del