Canonical Allele Identifier: PA2573161341
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420638
ClinVar RCV Id: RCV001914424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly530Cys
CA291545243
NM_000088.4:c.1588G>T