ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573060641
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
101185
ClinVar RCV Id:
RCV000087422
RCV000494523
ClinVar Variation Id:
101329
ClinVar RCV Id:
RCV000087567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Gly444Arg
CA004225
NM_000090.4:c.1330G>A
CA004230
NM_000090.4:c.1330G>C