Canonical Allele Identifier: PA2573161460
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505019
ClinVar RCV Id: RCV002020282
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly1392Ser
CA291542793
NM_000088.4:c.4174G>A