Canonical Allele Identifier: PA2741810499
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2505324

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1447Phe
CA8644178
NM_000088.4:c.4339G>T