Canonical Allele Identifier: PA3057720500
Gene: COL3A1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Ala698Ser
CA349840257
NM_000090.4:c.2092G>T
CA3060585848
NM_000090.4:c.2092_2093delinsAG