Canonical Allele Identifier: PA2573060516
Gene: COL3A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Gly183Arg
CA006935
NM_000090.4:c.547G>C