Canonical Allele Identifier: PA658804221
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521329
ClinVar RCV Id: RCV000624717
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly130Cys
CA400227495
NM_000088.4:c.388G>T