Canonical Allele Identifier: PA658668988
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 456826

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Met93Ile
CA162908568
NM_000089.4:c.279G>A
CA368219408
NM_000089.4:c.279G>C
CA368219409
NM_000089.4:c.279G>T