Canonical Allele Identifier: PA260391
Gene: COL1A2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Gly283del
CA260389
NM_000089.4:c.848_850del