Canonical Allele Identifier: PA2573161465
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360205
ClinVar RCV Id: RCV001904765 RCV002292673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg1399Cys
CA8644236
NM_000088.4:c.4195C>T