ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060887
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199707
ClinVar RCV Id:
RCV000226945
RCV001704860
RCV001183976
RCV003330540
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Val44Ile
CA004218
NM_000090.4:c.130G>A