Canonical Allele Identifier: PA2580103897
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807123
ClinVar RCV Id: RCV002475080
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Thr478Ser
CA8645259
NM_000088.4:c.1432A>T
CA400217694
NM_000088.4:c.1433C>G